{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,24]],"date-time":"2026-06-24T20:30:00Z","timestamp":1782333000954,"version":"3.54.5"},"reference-count":40,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2022,4,1]],"date-time":"2022-04-01T00:00:00Z","timestamp":1648771200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2022,4,1]],"date-time":"2022-04-01T00:00:00Z","timestamp":1648771200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2021,12,9]],"date-time":"2021-12-09T00:00:00Z","timestamp":1639008000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["gimjournal.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Genetics in Medicine"],"published-print":{"date-parts":[[2022,4]]},"DOI":"10.1016\/j.gim.2021.11.021","type":"journal-article","created":{"date-parts":[[2021,11,29]],"date-time":"2021-11-29T16:45:30Z","timestamp":1638204330000},"page":"811-820","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":11,"title":["Automated reanalysis application to assist in detecting novel gene\u2013disease associations after genome sequencing"],"prefix":"10.1016","volume":"24","author":[{"given":"Nana E.","family":"Mensah","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ataf H.","family":"Sabir","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew","family":"Bond","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wendy","family":"Roworth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melita","family":"Irving","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela C.","family":"Davies","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joo Wook","family":"Ahn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"5","key":"10.1016\/j.gim.2021.11.021_bib1","doi-asserted-by":"crossref","first-page":"197","DOI":"10.5694\/mja17.01176","article-title":"Whole genome sequencing provides better diagnostic yield and future value than whole exome sequencing","volume":"209","author":"Mattick","year":"2018","journal-title":"Med J Aust"},{"key":"10.1016\/j.gim.2021.11.021_bib2","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1038\/s41525-018-0053-8","article-title":"Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases","volume":"3","author":"Clark","year":"2018","journal-title":"NPJ Genom Med"},{"issue":"8","key":"10.1016\/j.gim.2021.11.021_bib3","doi-asserted-by":"crossref","first-page":"1303","DOI":"10.1111\/1467-9566.12460","article-title":"The nuanced negative: meanings of a negative diagnostic result in clinical exome sequencing","volume":"38","author":"Skinner","year":"2016","journal-title":"Sociol Health Illn"},{"issue":"3","key":"10.1016\/j.gim.2021.11.021_bib4","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1136\/jmedgenet-2016-104306","article-title":"The importance of dynamic re-analysis in diagnostic whole exome sequencing","volume":"54","author":"Need","year":"2017","journal-title":"J\u00a0Med Genet"},{"issue":"2","key":"10.1016\/j.gim.2021.11.021_bib5","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1038\/gim.2016.88","article-title":"Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providers","volume":"19","author":"Wenger","year":"2017","journal-title":"Genet Med"},{"issue":"10","key":"10.1016\/j.gim.2021.11.021_bib6","doi-asserted-by":"crossref","first-page":"1216","DOI":"10.1038\/gim.2017.246","article-title":"Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders","volume":"20","author":"Wright","year":"2018","journal-title":"Genet Med"},{"issue":"6","key":"10.1016\/j.gim.2021.11.021_bib7","doi-asserted-by":"crossref","first-page":"645","DOI":"10.1038\/gim.2017.162","article-title":"Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and\/or intellectual disability: substantial interest of prospective annual reanalysis","volume":"20","author":"Nambot","year":"2018","journal-title":"Genet Med"},{"issue":"5","key":"10.1016\/j.gim.2021.11.021_bib8","doi-asserted-by":"crossref","first-page":"740","DOI":"10.1038\/s41431-018-0114-6","article-title":"Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing","volume":"26","author":"Costain","year":"2018","journal-title":"Eur J Hum Genet"},{"issue":"1","key":"10.1016\/j.gim.2021.11.021_bib9","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1038\/s41436-018-0044-2","article-title":"A\u00a0comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative","volume":"21","author":"Shashi","year":"2019","journal-title":"Genet Med"},{"issue":"1","key":"10.1016\/j.gim.2021.11.021_bib10","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1186\/s13073-017-0412-6","article-title":"Lessons learned from additional research analyses of unsolved clinical exome cases","volume":"9","author":"Eldomery","year":"2017","journal-title":"Genome Med"},{"issue":"10","key":"10.1016\/j.gim.2021.11.021_bib11","doi-asserted-by":"crossref","first-page":"1519","DOI":"10.1038\/s41431-019-0442-1","article-title":"Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing","volume":"27","author":"Bruel","year":"2019","journal-title":"Eur J Hum Genet"},{"issue":"5","key":"10.1016\/j.gim.2021.11.021_bib12","doi-asserted-by":"crossref","first-page":"600","DOI":"10.1002\/humu.23183","article-title":"Classification of genes: standardized clinical validity assessment of gene--\u2014disease associations aids diagnostic exome analysis and reclassifications","volume":"38","author":"Smith","year":"2017","journal-title":"Hum Mutat"},{"issue":"12","key":"10.1016\/j.gim.2021.11.021_bib13","doi-asserted-by":"crossref","first-page":"1791","DOI":"10.1038\/s41431-019-0471-9","article-title":"A\u00a0head-to-head evaluation of the diagnostic efficacy and costs of trio versus singleton exome sequencing analysis","volume":"27","author":"Tan","year":"2019","journal-title":"Eur J Hum Genet"},{"issue":"6319","key":"10.1016\/j.gim.2021.11.021_bib14","doi-asserted-by":"crossref","DOI":"10.1126\/science.aaf6814","article-title":"Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study","volume":"354","author":"Dewey","year":"2016","journal-title":"Science"},{"issue":"9","key":"10.1016\/j.gim.2021.11.021_bib15","doi-asserted-by":"crossref","first-page":"876","DOI":"10.1038\/gim.2015.194","article-title":"Recontact in clinical practice: a survey of clinical genetics services in the United Kingdom","volume":"18","author":"Carrieri","year":"2016","journal-title":"Genet Med"},{"issue":"7","key":"10.1016\/j.gim.2021.11.021_bib16","doi-asserted-by":"crossref","first-page":"946","DOI":"10.1038\/s41431-018-0131-5","article-title":"Recontacting or not recontacting? A survey of current practices in clinical genetics centres in Europe","volume":"26","author":"Sirchia","year":"2018","journal-title":"Eur J Hum Genet"},{"issue":"4","key":"10.1016\/j.gim.2021.11.021_bib17","doi-asserted-by":"crossref","first-page":"815","DOI":"10.1038\/s41436-019-0719-3","article-title":"The case for implementing sustainable routine, population-level genomic reanalysis","volume":"22","author":"Lu","year":"2020","journal-title":"Genet Med"},{"issue":"6","key":"10.1016\/j.gim.2021.11.021_bib18","doi-asserted-by":"crossref","first-page":"1267","DOI":"10.1038\/s41436-019-0478-1","article-title":"Points to consider in the reevaluation and reanalysis of genomic test results: a statement of the American College of Medical Genetics and Genomics (ACMG)","volume":"21","author":"Deignan","year":"2019","journal-title":"Genet Med"},{"key":"10.1016\/j.gim.2021.11.021_bib19","doi-asserted-by":"crossref","first-page":"k1687","DOI":"10.1136\/bmj.k1687","article-title":"The 100 000 Genomes Project: bringing whole genome sequencing to the NHS","volume":"361","author":"Turnbull","year":"2018","journal-title":"BMJ"},{"issue":"1","key":"10.1016\/j.gim.2021.11.021_bib20","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1016\/j.jmoldx.2018.07.008","article-title":"Automated clinical exome reanalysis reveals novel diagnoses","volume":"21","author":"Baker","year":"2019","journal-title":"J\u00a0Mol Diagn"},{"issue":"1","key":"10.1016\/j.gim.2021.11.021_bib21","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1038\/s41525-020-00140-1","article-title":"Partially automated whole-genome sequencing reanalysis of previously undiagnosed pediatric patients can efficiently yield new diagnoses","volume":"5","author":"James","year":"2020","journal-title":"NPJ Genom Med"},{"issue":"9","key":"10.1016\/j.gim.2021.11.021_bib22","doi-asserted-by":"crossref","first-page":"1337","DOI":"10.1038\/s41431-021-00852-7","article-title":"Solving patients with rare diseases through programmatic reanalysis of genome-phenome data","volume":"29","author":"Matalonga","year":"2021","journal-title":"Eur J Hum Genet"},{"issue":"9","key":"10.1016\/j.gim.2021.11.021_bib23","doi-asserted-by":"crossref","first-page":"1398","DOI":"10.1038\/s41431-019-0401-x","article-title":"Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes","volume":"27","author":"Schmitz-Abe","year":"2019","journal-title":"Eur J Hum Genet"},{"issue":"25","key":"10.1016\/j.gim.2021.11.021_bib24","doi-asserted-by":"crossref","first-page":"2478","DOI":"10.1056\/NEJMc1812033","article-title":"Reanalysis of clinical exome sequencing data","volume":"380","author":"Liu","year":"2019","journal-title":"N\u00a0Engl J Med"},{"key":"10.1016\/j.gim.2021.11.021_bib25","doi-asserted-by":"crossref","first-page":"612","DOI":"10.3389\/fneur.2020.00612","article-title":"Reanalysis of genomic sequencing results in a clinical laboratory: advantages and limitations","volume":"11","author":"Won","year":"2020","journal-title":"Front Neurol"},{"issue":"11","key":"10.1016\/j.gim.2021.11.021_bib26","doi-asserted-by":"crossref","first-page":"1560","DOI":"10.1038\/s41588-019-0528-2","article-title":"PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels","volume":"51","author":"Martin","year":"2019","journal-title":"Nat Genet"},{"key":"10.1016\/j.gim.2021.11.021_bib27","author":"Baple"},{"issue":"5","key":"10.1016\/j.gim.2021.11.021_bib28","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med"},{"issue":"5","key":"10.1016\/j.gim.2021.11.021_bib29","doi-asserted-by":"crossref","first-page":"815","DOI":"10.1016\/j.ajhg.2017.09.019","article-title":"Mutations in fibronectin cause a subtype of spondylometaphyseal dysplasia with \u201ccorner fractures.\u201d","volume":"101","author":"Lee","year":"2017","journal-title":"Am J Hum Genet"},{"issue":"3","key":"10.1016\/j.gim.2021.11.021_bib30","doi-asserted-by":"crossref","first-page":"154","DOI":"10.1097\/MCD.0000000000000369","article-title":"Automated reanalysis, a novel way to diagnose an ultra-rare condition: Fibronectin-1-related spondylometaphyseal dysplasia (SMD-FN1)","volume":"30","author":"Sabir","year":"2021","journal-title":"Clin Dysmorphol"},{"issue":"2","key":"10.1016\/j.gim.2021.11.021_bib31","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1016\/j.ajhg.2019.01.003","article-title":"De novo mutations affecting the catalytic C\u03b1 subunit of PP2A, PPP2CA, cause syndromic intellectual disability resembling other PP2A-related neurodevelopmental disorders","volume":"104","author":"Reynhout","year":"2019","journal-title":"Am J Hum Genet"},{"issue":"12","key":"10.1016\/j.gim.2021.11.021_bib32","doi-asserted-by":"crossref","first-page":"1256","DOI":"10.1038\/ng.1004","article-title":"Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome","volume":"43","author":"Pansuriya","year":"2011","journal-title":"Nat Genet"},{"issue":"11","key":"10.1016\/j.gim.2021.11.021_bib33","doi-asserted-by":"crossref","first-page":"2609","DOI":"10.1002\/ajmg.a.34325","article-title":"Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA)","volume":"155A","author":"Vissers","year":"2011","journal-title":"Am J Med Genet A"},{"issue":"4","key":"10.1016\/j.gim.2021.11.021_bib34","doi-asserted-by":"crossref","first-page":"613","DOI":"10.1038\/ng.3815","article-title":"Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations","volume":"49","author":"Wang","year":"2017","journal-title":"Nat Genet"},{"issue":"6","key":"10.1016\/j.gim.2021.11.021_bib35","doi-asserted-by":"crossref","first-page":"985","DOI":"10.1016\/j.ajhg.2017.10.006","article-title":"Monoallelic BMP2 variants predicted to result in haploinsufficiency cause craniofacial, skeletal, and cardiac features overlapping those of 20p12 deletions","volume":"101","author":"Tan","year":"2017","journal-title":"Am J Hum Genet"},{"issue":"17","key":"10.1016\/j.gim.2021.11.021_bib36","doi-asserted-by":"crossref","first-page":"5473","DOI":"10.1073\/pnas.1418631112","article-title":"Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants","volume":"112","author":"Belkadi","year":"2015","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"9","key":"10.1016\/j.gim.2021.11.021_bib37","doi-asserted-by":"crossref","first-page":"1551","DOI":"10.1016\/j.ajhg.2021.06.020","article-title":"Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution","volume":"108","author":"Stark","year":"2021","journal-title":"Am J Hum Genet"},{"issue":"3","key":"10.1016\/j.gim.2021.11.021_bib38","doi-asserted-by":"crossref","first-page":"633","DOI":"10.1038\/s41436-019-0679-7","article-title":"Is there a duty to reinterpret genetic data? The ethical dimensions","volume":"22","author":"Appelbaum","year":"2020","journal-title":"Genet Med"},{"issue":"4","key":"10.1016\/j.gim.2021.11.021_bib39","doi-asserted-by":"crossref","first-page":"578","DOI":"10.1016\/j.ajhg.2019.02.025","article-title":"The esponsibility to recontact research participants after reinterpretation of genetic and genomic research results","volume":"104","author":"Bombard","year":"2019","journal-title":"Am J Hum Genet"},{"issue":"12","key":"10.1016\/j.gim.2021.11.021_bib40","doi-asserted-by":"crossref","first-page":"1113","DOI":"10.1001\/jamapediatrics.2018.2675","article-title":"Need for automated interactive genomic interpretation and ongoing reanalysis","volume":"172","author":"Sarmady","year":"2018","journal-title":"JAMA Pediatr"}],"container-title":["Genetics in Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1098360021054010?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1098360021054010?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T01:51:38Z","timestamp":1761097898000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1098360021054010"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,4]]},"references-count":40,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2022,4]]}},"alternative-id":["S1098360021054010"],"URL":"https:\/\/doi.org\/10.1016\/j.gim.2021.11.021","relation":{"has-preprint":[{"id-type":"doi","id":"10.1101\/2020.10.16.20212852","asserted-by":"object"}]},"ISSN":["1098-3600"],"issn-type":[{"value":"1098-3600","type":"print"}],"subject":[],"published":{"date-parts":[[2022,4]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Automated reanalysis application to assist in detecting novel gene\u2013disease associations after genome sequencing","name":"articletitle","label":"Article Title"},{"value":"Genetics in Medicine","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.gim.2021.11.021","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2021 The Authors. Published by Elsevier Inc. on behalf of American College of Medical Genetics and Genomics.","name":"copyright","label":"Copyright"}]}}